Background: Pyridoxine-dependent seizures is an autosomal, recessively inherited inborn error of metabolism with recurrent long-lasting seizures with onset usually in infancy, but also up to three years of age. The seizures are resistant to conventional anticonvulsants. The condition ends fatally if diagnosis and administration of pyridoxine (vitamin B6 ) in pharmacological doses is delayed too long.
Material and methods: A ten-year-old girl who we believe is affected with this condition is presented. A review of the condition based on relevant literature is given.
Results and interpretation: The disorder is rare, but may be underdiagnosed. This case report highlights the serious convulsive condition, the problems in diagnosis and treatment, the delayed development before diagnosis and a very positive development during pyridoxine treatment. The condition is variable in clinical expression, and a variety of clinical seizure types may be seen. Diagnosis is clinical and based on response to pyridoxine administration. The pyridoxine dose needed varies, and the aim of treatment is seizure control as well as optimal intellectual development. Prognosis is variable; many are retarded, especially in their speech development. A gene on chromosome 5 is linked to the disorder, but the gene and its product are unknown.